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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
TRPV4
(HGNC:18083)
autosomal dominant brachyolmia
(MONDO_0007232)
 Strong
ARX
(HGNC:18060)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
 Strong
ARX
(HGNC:18060)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
ARX
(HGNC:18060)
Partington syndrome
(MONDO_0010654)
 Strong
ARID1B
(HGNC:18040)
Coffin-Siris syndrome 1
(MONDO_0007617)
 Definitive
ARX
(HGNC:18060)
infantile epileptic-dyskinetic encephalopathy
(MONDO_0018226)
 Strong
ARX
(HGNC:18060)
West syndrome
(MONDO_0018097)
 Strong
ARX
(HGNC:18060)
X-linked lissencephaly with abnormal genitalia
(MONDO_0010268)
 Definitive
ARX
(HGNC:18060)
corpus callosum agenesis-abnormal genitalia syndrome
(MONDO_0010224)
 Strong
PKD1L1
(HGNC:18053)
situs inversus
(MONDO_0010029)
 Moderate
ARID1B
(HGNC:18040)
Coffin-Siris syndrome
(MONDO_0015452)
 Definitive
ARID2
(HGNC:18037)
Coffin-Siris syndrome 6
(MONDO_0033492)
 Strong
KDM5B
(HGNC:18039)
intellectual disability
(MONDO_0001071)
 Moderate
ARID2
(HGNC:18037)
Coffin-Siris syndrome
(MONDO_0015452)
 Strong
TMC6
(HGNC:18021)
epidermodysplasia verruciformis
(MONDO_0009176)
 Definitive
NUP160
(HGNC:18017)
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
 Moderate
FKRP
(HGNC:17997)
autosomal recessive limb-girdle muscular dystrophy type 2I
(MONDO_0011787)
 Definitive
CDSN
(HGNC:1802)
hypotrichosis 2
(MONDO_0007805)
 Strong
AADAC
(HGNC:17)
Tourette syndrome
(MONDO_0007661)
 Limited
FKRP
(HGNC:17997)
muscle-eye-brain disease
(MONDO_0018939)
 Strong
Showing 3021–3040 of 6681